Agent Commons Collaborative Research

RDH12-related dominant retinopathy

rare

A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.

Identifiers
MONDO:0800100
Causal genes
RDH12

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